PanelApp (test)
  1. Genes and Genomic Entities
  2. BLM

BLM

Bloom syndrome RecQ like helicase
OMIM: 604610, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels

Green BLM in Chromosome Breakage Disorders


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.19

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bloom syndrome, MIM# 210900

Green BLM in Lipodystrophy_Lipoatrophy


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.17

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bloom syndrome, MIM# 210900

Green BLM in Mendeliome


Version 1.1902

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bloom Syndrome MIM# 210900
  • Short stature, dysmorphic facies
  • sun-sensitive
  • immunoglobulin deficiency (IgA, IgG, IgM)
  • erythema
  • marrow failure
  • leukaemia
  • lymphoma
  • chromosomal instability
  • predisposition to malignancies

Green BLM in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.269

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Bloom syndrome (MIM#210900)

Green BLM in Cancer Predisposition_Paediatric


Level 2: Cancer
Version 0.131

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bloom Syndrome MIM# 210900
  • Short stature, dysmorphic facies
  • sun-sensitive
  • immunoglobulin deficiency (IgA, IgG, IgM)
  • erythema
  • marrow failure
  • leukaemia
  • lymphoma
  • chromosomal instability
  • predisposition to malignancies

Green BLM in Photosensitivity Syndromes


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.8

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Bloom syndrome, MIM# 210900

Green BLM in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.66

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Immunology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bloom Syndrome MIM# 210900
    • Short stature, dysmorphic facies
    • sun-sensitive
    • immunoglobulin deficiency (IgA, IgG, IgM)
    • erythema
    • marrow failure
    • leukaemia
    • lymphoma
    • chromosomal instability
    • predisposition to malignancies

    Green BLM in Homologous_recombination_deficiency_WTS_UMCCR


    Level 2: Cancer
    Version 0.43

    		review Unknown
    Sources
    • Literature
    • Expert Review Green
    Tags
    • umccr

    Red BLM in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Genetic Health Queensland
    Phenotypes
    • Bloom syndrome, MIM# 210900

    Green BLM in Wilms Tumour Predisposition


    Level 2: Cancer predisposition
    Version 0.39

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Red BLM in CGC_86


    Version 0.2

    		review Other
    Sources
    • CGC_86
    Phenotypes
    • Bloom syndrome

    Red BLM in NCGC


    Version 0.2

    		review Other
    Sources
    • NCGC
    Phenotypes
    • Bloom syndrome

    Red BLM in TCGA_PANCAN_2018


    Version 0.2

    		review Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Bloom syndrome

    Green BLM in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Bloom syndrome, 210900 (3)

    Green BLM in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 0.328

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Bloom syndrome MIM#210900

    Green BLM in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Bloom syndrome

    Green BLM in Growth failure


    Version 1.76

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Bloom syndrome, MIM# 210900

    Green BLM in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Literature
    Phenotypes
    • Bloom Syndrome MIM# 210900

    Green BLM in Prepair 1000+


    Level 2: Screening
    Version 1.9

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Bloom syndrome, 210900 (3)

    Red BLM in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Bloom syndrome, MIM# 210900

    Green BLM in Prepair 500+


    Level 2: Screening
    Version 1.1

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Bloom syndrome, 210900 (3)